p.Ala23 Gly43del variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
p.Ala23 Gly43del in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala23 Gly43del variant details
- gnomAD 11-2445161-AGGCGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 18.90
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Literature evidence available